ClinVar Miner

List of variants in gene PAX2 reported as uncertain significance for Focal segmental glomerulosclerosis 7

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000278.5(PAX2):c.563A>G (p.Asn188Ser) rs767995614 0.00005
NM_000278.5(PAX2):c.1049G>C (p.Ser350Thr) rs1589910427
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp) rs759356936
NM_000278.5(PAX2):c.175C>T (p.Arg59Trp) rs2133833948
NM_000278.5(PAX2):c.1A>G (p.Met1Val) rs767150408
NM_000278.5(PAX2):c.263C>A (p.Pro88His) rs1845410479
NM_000278.5(PAX2):c.263C>T (p.Pro88Leu) rs1845410479
NM_000278.5(PAX2):c.272C>T (p.Ala91Val) rs1589813617
NM_000278.5(PAX2):c.574G>C (p.Gly192Arg) rs1589848170
NM_000278.5(PAX2):c.832G>T (p.Asp278Tyr)

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